Sequência de genoma de humano antigo de um extinto Paleo-eskimó

Nature 463, 757-762 (11 February 2010) | doi:10.1038/nature08835; Received 30 November 2009; Accepted 18 January 2010

Ancient human genome sequence of an extinct Palaeo-Eskimo

Morten Rasmussen1,2,25, Yingrui Li2,3,25, Stinus Lindgreen1,4,25, Jakob Skou Pedersen4, Anders Albrechtsen4, Ida Moltke4, Mait Metspalu5, Ene Metspalu5, Toomas Kivisild5,6, Ramneek Gupta7, Marcelo Bertalan7, Kasper Nielsen7, M. Thomas P. Gilbert1,2, Yong Wang8, Maanasa Raghavan1,9, Paula F. Campos1, Hanne Munkholm Kamp1,4, Andrew S. Wilson10, Andrew Gledhill10, Silvana Tridico11,12, Michael Bunce12, Eline D. Lorenzen1, Jonas Binladen1, Xiaosen Guo2,3, Jing Zhao2,3, Xiuqing Zhang2,3, Hao Zhang2,3, Zhuo Li2,3, Minfeng Chen2,3, Ludovic Orlando13, Karsten Kristiansen2,3,4, Mads Bak14, Niels Tommerup14, Christian Bendixen15, Tracey L. Pierre16, Bjarne Grønnow17, Morten Meldgaard18, Claus Andreasen19, Sardana A. Fedorova5,20, Ludmila P. Osipova21, Thomas F. G. Higham9, Christopher Bronk Ramsey10, Thomas v. O. Hansen22, Finn C. Nielsen22, Michael H. Crawford23, Søren Brunak7,24, Thomas Sicheritz-Pontén7, Richard Villems5, Rasmus Nielsen4,8, Anders Krogh2,4, Jun Wang2,3,4 & Eske Willerslev1,2

Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK-2100 Copenhagen, Denmark
Sino-Danish Genomics Center, BGI-Shenzhen, Shenzhen 518083, China, and University of Copenhagen, DK-2100 Copenhagen, Denmark
BGI-Shenzhen, Shenzhen 518083, China
Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen, Denmark
Department of Evolutionary Biology, Tartu University and Estonian Biocentre, 23 Riia Street, 510101 Tartu, Estonia
Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, Henry Wellcome Building, Fitzwilliam Street, University of Cambridge, Cambridge CB2 1QH, UK
Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, DK-2800 Lyngby, Denmark
Departments of Integrative Biology and Statistics, UC-Berkeley, 4098 VLSB, Berkeley, California 94720, USA
Research Laboratory for Archaeology and the History of Art, Dyson Perrins Building, South Parks Road, Oxford OX1 3QY, UK
Department of Archaeological Sciences, School of Life Sciences, University of Bradford, West Yorkshire, Bradford BD7 1DP, UK
Biological Criminalistics, Australian Federal Police, 1 Unwin Place, Weston, ACT 2611, Australia
Ancient DNA Laboratory, School of Biological Sciences and Biotechnology, Murdoch University, Perth 6150, Australia
Paleogenetics and Molecular Evolution, Institut de Génomique Fonctionnelle de Lyon, Université de Lyon, Université Lyon 1, CNRS, INRA, Ecole Normale Supérieure de Lyon, 46 allée d’Italie, 69364 Lyon Cedex 07, France
Wilhelm Johannsen Centre For Functional Genome Research, University of Copenhagen, Department of Cellular and Molecular Medicine, The Panum Institute, Blegdamsvej 3A, DK-2200 Copenhagen, Denmark
Department of Genetics and Biotechnology, Aarhus University, Blichers Allé 20PO BOX 50, DK-8830 Tjele, Denmark
Department of Biological Anthropology, University of Cambridge, Cambridge CB2 3QY, UK
Ethnographic Collections, National Museum of Denmark, Frederiksholms Kanal 12, DK-1220 Copenhagen, Denmark
Natural History Museum of Denmark, University of Copenhagen, Øster Voldgade 5-7, DK-1350 Copenhagen, Denmark
Greenland National Museum and Archives, PO Box 145, DK-3900 Nuuk, Greenland
Department of Molecular Genetics, Yakut Research Centre, Russian Academy of Medical Sciences, 4 Sergelyahonskoe Shosse, Yakutsk 677019, Sakha, Russia
The Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Lavrentyeva Ave. Novosibirsk 630090, Russia
Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark
Department of Anthropology, University of Kansas, Lawrence, Kansas 66045, USA
Novo Nordisk Foundation Center for Protein Research, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3A, DK-2200 Copenhagen, Denmark
These authors contributed equally to this work.

Correspondence to: Jun Wang2,3,4Eske Willerslev1,2 Correspondence and requests for materials should be addressed to E.W. (Email: ewillerslev@snm.ku.dk) or J.W. (Email: wangj@genomics.org.cn).

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We report here the genome sequence of an ancient human. Obtained from ~4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20×, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.

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